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Stem Cell Res. 2019 Apr 5;37:101432. doi: 10.1016/j.scr.2019.101432. [Epub ahead of print]

Reprogramming of a human induced pluripotent stem cell (iPSC) line (IBMSi012-A) from an early-onset Parkinson's disease patient harboring a homozygous p.D331Y mutation in the PLA2G6 gene.

Author information

1
Institute of Biomedical Science, Academia Sinica, Taipei, Taiwan.
2
Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan; Institute of Molecular Medicine, National Taiwan University College of Medicine, Taipei, Taiwan.
3
Food Industry Research and development Institute, Hsinchu, Taiwan.
4
Institute of Biomedical Science, Academia Sinica, Taipei, Taiwan. Electronic address: jennifer0820@ibms.sinica.edu.tw.
5
Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan. Electronic address: chlin@ntu.edu.tw.
6
Institute of Molecular Medicine, National Taiwan University College of Medicine, Taipei, Taiwan. Electronic address: phsieh@ibms.sinica.edu.tw.

Abstract

A recessive mutation in PLA2G6, which is known to cause a heterogeneous neurodegenerative clinical spectrum, has recently been shown to be responsible for autosomal-recessive familial forms of Parkinson's disease (PD). Here, we generated induced pluripotent stem cells (iPSCs) from the peripheral blood mononuclear cells of a female patient with a homozygous PLA2G6 c.991G > T (p.D331Y) mutation by using the Sendai-virus delivery system. The resulting iPSCs showed pluripotency confirmed by immunofluorescent staining for pluripotency markers and differentiated into the 3 germ layers in vivo. This cellular model will provide a good resource for further pathophysiological studies of PD.

PMID:
30978640
DOI:
10.1016/j.scr.2019.101432
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